Linked Data
ClinVar Variation Id:
2681194
ClinVar RCV Id:
RCV003468719
dbSNP Id:
rs180177173
ExAC:
2:241808421 G / C
gnomAD v2:
2-241808421-G-C
gnomAD v4:
2-240869004-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869004G>C , CM000664.2:g.240869004G>C | GRCh38 |
| NC_000002.11:g.241808421G>C , CM000664.1:g.241808421G>C | GRCh37 |
| NC_000002.10:g.241457094G>C | NCBI36 |
| NG_008005.1:g.5260G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.139G>C MANE Select | ENSP00000302620.3:p.Gly47Arg | |
| ENST00000307503.3:c.139G>C | ENSP00000302620.3:p.Gly47Arg | |
| ENST00000472436.1:n.159G>C | ||
| NM_000030.2:c.139G>C | NP_000021.1:p.Gly47Arg | |
| XR_924060.1:n.405+1229C>G | ||
| NM_000030.3:c.139G>C MANE Select | NP_000021.1:p.Gly47Arg |